The Silent Genomes Project (SGP) is a Canadian research project that aims to increase access to genomic testing technologies and improve diagnostic success for Indigenous Peoples with genetic diseases. Please read the Resource Document for further information. Additional information can be found at www.bcchr.ca/silent-genomes-project.

A background variant library is a collection of the frequencies for DNA variants observed in a group of people without severe genetic conditions. BVLs are very important in diagnosing genetic conditions, as the information about DNA variant frequency helps determine if a variant is rare or common in the general population. If a variant is common in a group of ‘healthy’ people without severe genetic conditions, it is less likely to be linked to a rare disease.

There are many BVLs that already exist, stored in computer databases. Some are accessible to the public, such as gnomAD. Doctors and researchers use these libraries to try to understand genetic test results for patients with suspected rare genetic disease, by narrowing down candidate disease-causing variants through ruling out variants that are known to be common in groups without severe genetic conditions. BVLs have been created for many human populations. It is necessary to have as many populations as possible represented in BVLs, since variants not seen in one group of people may be more common in another.

The Indigenous Background Variant Library (IBVL) is a digitally stored database that shows the frequency of DNA variants found in a population of Indigenous people who have not been diagnosed with a severe genetic condition. Prior to the establishment of the Silent Genomes IBVL, there has been no other IBVL for the Indigenous peoples of Canada. Indigenous Peoples worldwide are poorly represented in BVLs that are currently available.

Each population around the world has certain variants that are unique to them and not present (or observed at very different frequencies) in the DNA of other populations. Without an IBVL, genetic specialists cannot clearly determine which DNA variants are common and unrelated to disease in Indigenous Peoples. This makes diagnosing genetic conditions in Indigenous patients more difficult and less efficient than in non-Indigenous patients, because doctors are not able to quickly rule out the common variants seen in the general population in order to find the real ‘suspect’ variants. This can lead to delayed diagnosis, less effective health management and treatment for patients, and ongoing stress for families due to unanswered questions.

The IBVL seeks to help increase equity and reduce healthcare disparities for Indigenous families, by way of increasing efficiency of diagnosis and helping healthcare providers understand what DNA variants are common in Indigenous Peoples in Canada. Better and more efficient diagnosis leads to improvements in medical care and wellbeing for those with genetic diseases and their family members.

Please read the Resource Document, which contains substantial information about the principles and processes followed. Two particularly important and complementary sets of principles are the CARE and OCAP principles.

CARE principles for Indigenous data governance

The CARE Principles were written in response to the FAIR principles published in Scientific Data in 2016 (F: Findability, A: Accessibility, I: Interoperability, and R: Re-use of digital assets). Indigenous scholars responded to FAIR principles with the addition of CARE principles for Indigenous Data Governance, which reflect concerns about secondary use of data and limited opportunities for benefit-sharing. They are as follows:

C: Collective Benefit
• Research being done with Indigenous Peoples must benefit the community for equitable outcomes and contribute to wellbeing. This is done by governments actively supporting use and reuse of data, community engagement when planning, implementing, evaluating and decision-making.
A: Authority to Control
• Indigenous Peoples have the right and control over their own data for their own interests which is protected by their own Indigenous governance.
R: Responsibility
• Those working with Indigenous data have the responsibility to maintain positive relationships with Indigenous Peoples which include providing resources for Indigenous language and world views and to enhance data literacy within Indigenous communities to expand capability and capacity.
E: Ethics
• Indigenous People’s rights should be the primary concern at all times in order to minimize harm and maximize benefit by addressing power imbalances and fighting for justice as well as take everything learned about data governance to improve ethics for future usage.

The First Nations principles of Ownership, Control, Access, and Possession (OCAP)

The First Nations Principles of Ownership, Control, Access and Possession (commonly known as OCAP) were established in 1988 during a meeting of the National Steering Committee (NSC) of the First Nations and Inuit Regional Longitudinal Health Survey, to address the lack of laws or concepts to protect community rights, interests, and information. Under the principles of OCAP, First Nations have control over data collection processes, ownership of data, and control of how their data can be used, stored, interpreted, and shared. The principles are as follows:

O: Ownership Refers to when a community or group has ownership over their information or data just like it is their own personal data. C: Control First Nations can have the right to control all aspects of research from start to finish. This extends to having control over resources, review processes, planning processes, and information management. A: Access First Nations have access to information and data about themselves and their communities wherever it is stored. In addition, First Nations’ Communities are also to manage and make decisions regarding the access of their information through standard or formal protocols. P: Possession While ownership refers to the relationship between people and their information, possession is more concrete. It is the mechanism by which ownership can be asserted and protected.